In September, the NA community came together with researchers, clinicians, and our colleagues from the Cohen syndrome community for the 12th International Symposium on Neuroacanthocytosis Syndromes, Cohen Syndrome and other VPS13-related Disorders. Hosted at Jules-Gonin Eye Hospital in Lausanne, Switzerland, the three-day event brought together over 50 scientists, researchers and clinicians alongside 15 patients, family members and carers for a weekend of connection, discovery and hope. 

The symposium was a true collaboration between our communities, reflecting the shared biology that links VPS13A, XK, and the other VPS13-related conditions. By bringing together expertise across these rare diseases, we're able to learn from each other's experiences and accelerate progress for everyone affected. 

One of the important aspects of this year's meeting was its dual-track format. While researchers gathered for intensive scientific sessions exploring everything from lipid transport mechanisms to animal models and potential therapies, a parallel programme offered patient-oriented sessions on occupational therapy, mental health resources, and speech and swallowing support. There were also unique offerings like Reiki sessions and a powerful theatre performance that reminded us all that living with NA syndromes is about so much more than medical symptoms. 

The scientific programme featured two inspiring keynote lectures that explored VPS13 proteins as a category of diseases linked by disrupted lipid transport. Researchers from around the world shared their latest findings through presentations and poster sessions, building a clearer picture of how these conditions develop and how we might one day treat them. The energy in the room was palpable and it felt like each presentation added another piece to the puzzle. 

For our patients and families, the weekend was both informative and uplifting. The practical sessions offered tools and strategies that can be implemented immediately, while simply being together with others who truly understand the journey provided its own form of support. The connections made in Lausanne will continue. 

You can read / download the full report here: https://naadvocacy.org/wp-content/uploads/2025/11/REPORT-12th-Symposium-Lausanne-12-14-Sep-2025.pdf 

As the meeting came to a close, we were thrilled to hear the announcement that the 13th International Symposium will take place in Warsaw, Poland in 2027. We're already looking forward to gathering again, continuing our work, and welcoming newcomers to our community. 

Thank you to everyone who made this symposium possible, the organisers, speakers, attendees, and supporters! 

Together, we're making real progress. 

Mark David Williford died peacefully on October 13, 2025 in Rockledge, Florida just shy of his 72nd birthday. Long before the onset of symptoms of XK disease, he was a natural athlete who loved to swim and roam the neighborhood with his friends. He met the woman who would become his wife, the then Joy Willard, in his senior year of high school, when teachers sat them in alphabetical order. Their first date was senior prom and they celebrated their 50^th wedding anniversary in December 2024.

Mark attended the University of Central Florida for two years before transferring to the University of Florida to complete his degree in Pharmacy in 1976. After graduating pharmacy school, he worked at Leesburg General Hospital before he and Joy moved to Melbourne, Florida where Mark took a job at an independent retail pharmacy. He soon moved on to employment at Holmes Regional Medical Center where he remained for 10 years, making many friends. He was appointed as the first pharmacist at the newly built Palm Bay Community Hospital in 1992, continuing to serve there until retirement – prompted by progressive XK symptoms - in 2010. He was named 2005-6 Palm Bay Community Hospital Star Performer. Mark was known to be honest and hardworking, and nurses loved his sweet and funny nature, as well as his willingness to stay beyond his shift’s end to get their last-minute pharmacy needs met.

In his spare time Mark attempted to learn the banjo, enjoyed Scottish Country Dancing (winning the “Bonniest Buns” contest at Thistle School), was a consistent swimmer and later water aerobics attendee at Pro Health and Fitness. He loved to read, especially in his later years. He also was an under the radar sports and Florida Gator expert and loved Broadway musicals, especially My Fair Lady. He loved Western movies and could quote by heart most episodes of the Andy Griffith Show. Mark loved ice cream, with several cartons always in the freezer. He had a crazy talent for wiggling his ears, which entertained all, but especially children. All who had the chance to meet and know Mark quickly discovered what a kind, funny and gentle man he was. He had a quick and dry wit. He was rooted in his faith and his family. He was a longtime member of his local Episcopal church and served as an active acolyte for many years as a child, teen, and adult. For several years he was the chair of his church’s Health Committee, and also helped to deliver flowers to shut-ins.

Above all, Mark was a devoted husband to Joy and father to his daughters, Melissa and Katie. He supported Joy in all of her professional and community ventures, including her move to Tennessee for three years to attend seminary. He was always encouraging of her work with Neuroacanthocytosis Advocacy USA, Inc, and accompanied her to international symposiums in Bethesda, Maryland, the University of Michigan, Dresden and Homburg, Germany. He truly was a supportive and loving partner.

Mark loved his daughters deeply and dearly. He taught them to ride a bike, bowl, drive a car, and much more. After a long day at work he would still be found at their many sporting events and activities. This devotion and support continued on to his grandchildren, even when his mobility became limited.

Mark is survived by his wife, his daughters Melissa Euziere (Michael) of Melbourne and Katie Grant (Travis) of Gainesville, as well as five grandchildren, Emerson and Cooper Euziere and Owen, Bennett, and Eloise Grant. Mark was also “dad” to Anne Lahtinen of Helsinki, Finland. He will be missed by extended family and dear friends. Mark was preceded in death by his parents and older brother, Eric. Eric also succumbed to XK disease.

A lot of those who knew Mark and his family were interested in contributing in memoriam, and made donations to NA Advocacy USA, Inc. A generous anonymous donor has stepped forward and will be matching these donations made between October 13 and December 31, 2025. 

If you wish to  support continued research towards better treatment and ultimately a cure for the ultra-rare neuroacanthocytosis syndromes, please use the Donate button on NA Advocacy USA and be sure to include “in memory of Mark” in the comment field provided by PayPal. If donating by check, please add a note stating “in memory of Mark.” 

Mark gave abundantly and loved fully. His family would truly not be who they are without the gift of being loved by this wonderful man. He will be deeply, deeply missed. His goodness was wide, pure, and deep. His family finds comfort in knowing that he is finally free of the awful XK disease that slowly ravaged his body for the past 25 years. In one final act of love, Mark donated his brain and tissue from his heart, liver, spleen, peripheral nerves, spinal cord, and muscle to the brain bank at the Icahn School of Medicine at Mt. Sinai, to be used in research on XK disease. 

Mark lived and loved so, so well. He will be missed forever. 

Over the three days, patients, family members, and carers attended sessions on occupational therapy (OT), mental health resources, and speech and communication support, each one meeting people where they are and offering ways to navigate the challenges ahead. 

Joana Valente, an occupational therapist from ParkinsonNet Luxembourg, opened the patient track with a session exploring how OT can help preserve independence and dignity. From adapting the home environment with mobility aids and grab rails, to finding new ways to approach eating, dressing, and work, Joana's talk was filled with real-life examples and achievable strategies. Her message was clear: "We start with what matters to you, not what's 'wrong' with you." Whether it's continuing a beloved hobby or simply making daily tasks a bit easier, OT helps people stay connected to what makes life meaningful. The session also emphasised that OT doesn't work alone, it's part of a collaborative team that includes physiotherapists, speech therapists, and other specialists, all working together to support the whole person. 

Download full session report: https://naadvocacy.org/wp-content/uploads/2025/10/Joana-Valente-Occupational-Therapy-12-Sep-2025.pdf 

Matt Bolz-Johnson, Mental Health Lead at Eurordis, led a powerful session on mental health resources, reminding everyone that emotional wellbeing deserves the same attention as physical health. His talk covered practical tools like cognitive behavioural therapy, mindfulness techniques, and peer support networks, while also introducing Eurordis's new Mental Health & Wellbeing Toolkit. What made the session particularly moving were the breakout groups, where patients, family members, and carers shared their experiences and unmet needs. Common themes emerged: the importance of patient advocates, the value of creative expression through art and storytelling, and the need for holistic care that recognises both the medical and emotional dimensions of living with a rare disease. As Matt reminded us, "Mental health is not a luxury, it's a foundation. Especially when life gets complicated." 

Download full session report: https://naadvocacy.org/wp-content/uploads/2025/10/Matt-Johnson-Mental-Health-Resources-13-Sep-2025.pdf 

The final patient-oriented session was led by Dr Elina Tripoliti, a Clinical Specialist Speech and Language Therapist from University College London (UCL), who brought warmth and expertise to topics that sit at the heart of daily life: communication, eating, and drinking. Elina explained how changes in speech and swallowing affect not just practical function, but also identity and connection. She shared therapeutic approaches like LSVT Loud voice therapy, swallowing exercises, and even the surprising benefits of singing and dance for speech improvement. Her session included practical demonstrations and highlighted the work she's done with Alex Irvine, with videos available on NA Advocacy's YouTube channel. Elina also introduced voice banking technology, which allows individuals at risk of voice loss to preserve their vocal identity. Her message resonated deeply: "Even when speech changes, the person remains. Our job is to keep the conversation going." 

Download full session report: https://naadvocacy.org/wp-content/uploads/2025/10/Elina-Tripoliti-Keep-the-joy-of-communicating-eating-drinking-13-Sep-2025.pdf 

Woven throughout the weekend were other supportive offerings that reflected the symposium's holistic approach. Sally Cowan provided Reiki sessions, a gentle, non-intrusive energy healing technique.

In a truly unique moment, actor and creator José-Miguel (Zé) Figueiredo, who lives with VPS13A disease, performed his boundary-pushing theatre piece "If I Get to Korea, I'll Tell You." The intimate performance reminded everyone that the body is not just a subject of science, but a force of expression, and that art can be both therapy and a powerful form of truth-telling. 

The feedback from attendees was clear: these sessions should be recommended to anyone affected by NA syndromes. Along with information, they offered hope, community spirit, and tangible ways to live well, even when the path becomes complex. 

Dr Leonzino's journey with VPS13 proteins began during her postdoctoral training at Yale University in Pietro De Camilli's lab, where she contributed to groundbreaking discoveries showing that VPS13 proteins act as lipid transfer proteins at specific points where cell membranes meet. She helped identify their binding partners and clarified how different human VPS13 family members connect to distinct cellular functions. 

Now leading her own research group at the Institute of Neuroscience of the CNR at Humanitas, Dr Leonzino currently focuses on VPS13D. Because completely removing this protein is lethal for cells, her team developed innovative models that allow them to study its function in living cells and human neurons. These models are providing crucial insights into how VPS13D works, why its loss causes disease, and how this knowledge may guide future therapies. 

In her prize lecture, Dr Leonzino traced the journey from molecular structure to patient impact, showing how VPS13D helps maintain healthy mitochondria, regulates the cell's recycling system, and shapes neuronal development. Using patient-derived stem cells carrying VPS13D mutations, her team observed reduced neurite growth and altered electrical activity, offering clues to the movement and developmental symptoms seen in VPS13D-related disorders. 

In a special moment during the Lausanne symposium, all three prize winners to date, Dr Leonzino alongside 2021 winner Dr Jae-Sook Park  and 2023 winner Dr Kevin Peikert, shared the stage together to receive their certificates in person. 

The Glenn Irvine Prize honours the memory of our charity's co-founder and celebrates young scientists whose research advances understanding of VPS13 and XK diseases. The prize continues thanks to the generous contribution from Carl and Betty Pforzheimer, whose vision ensures we can recognise and support exceptional researchers for many years to come. 

We're grateful and proud to be able to support the future research and look forward to seeing where it leads! 

One of the most striking moments of the Lausanne Symposium came not from a lecture hall, but from a transformed meeting room-turned-stage, where actor and creator José-Miguel (Zé) Figueiredo performed his boundary-pushing work "If I Reach Korea I'll Tell You." This intimate Teatro do Zero production offered something rare in both theatre and scientific gatherings: a raw, immersive act of creation that refused easy categorisation or comfortable distance. 

As director Mauro Corage writes, "It is not a play about the disease, but the disease is present. It is not an autobiography, but it carries traces of intimate and everyday experiences. It is not a manifesto, but it is, inevitably, a political gesture." What unfolded was not spectacle, but truth, expressed through silence, gesture, vulnerability, and the kind of presence that demands we reconsider what bodies are capable of and what voices deserve to be heard. 

Zé, who lives with VPS13A disease, is on stage because he is an artist and a creator with important questions to ask. The performance rejects elaborate props or visual distractions, working instead with what Mauro calls "the cruelty of simplicity." Through failures, pauses, and everything that is often hidden from the stage, Zé invites us into a space where difference is not an obstacle but a creative force. 

"At a time when many performers and formats blur into repetition, the presence of a truly different body is a breath of fresh air," Mauro explains. "Not as exotica. Not out of pity. But for the courage to open new possibilities for creation." 

The performance reminded us that the body is not just a subject of science, but a force of expression. That art, at its most honest, is a place where truth can be felt, not just understood. For Zé, theatre and other art-based therapies form part of his wellbeing regime, developed alongside his friend and director, Mauro. It's a powerful example of how creativity can be both therapeutic and transformative, for the artist and the audience alike. 

While we recorded the performance, we don't have the rights to share it publicly. If you'd like to watch it, please email info@naadvocacy.org to request a link, but please do not distribute it further. We're grateful to have witnessed this remarkable work and to Zé for his courage in asking difficult questions about who gets to be seen, heard, and valued in art and in society. 

The response was overwhelmingly positive, with participants rating the sessions exceptionally highly and writing comments such as "invite us again!" and "great job!" 

The mental health session, speech and communication support, and occupational therapy talks stood out as particularly valuable, with several people noting they found "all informative and well done." 

José-Miguel's theatre performance also resonated deeply, with multiple attendees highlighting it as a powerful and memorable part of the weekend. 

The recurring theme was clear: practical, compassionate guidance delivered by experts who truly understand the journey makes an enormous difference. 

What participants want more of tells us just as much as what they loved. Physical therapy, gait and balance support, and dietary advice emerged as requests for future programmes. Several attendees suggested adding sessions focused specifically on tics in VPS13A and gastrointestinal issues. There was also an interest for more interactive elements such as group sessions where patients and families can share experiences directly with researchers, and dedicated time for caregivers to connect with each other and discuss their own wellbeing without patients present. 

We also heard feedback about the need for more XK-specific information and a call to progress the NA patient registry. One participant reminded us that while we celebrate what we've achieved, there's still urgent work ahead! 

Others suggested making parts of future symposia available via Zoom for family members who can’t travel, ensuring even broader access to this vital information. 

The feedback forms remind us why we do this work: to listen, to learn, and to keep improving. We're grateful to everyone who took the time to share their thoughts, and we're already thinking about how to incorporate these ideas into our next gathering in Warsaw. 

Your voices shape the future of these meetings, and we're committed to making each one better than the last. 

Memories of the Symposium - feedback forms, our notepads, the patient-oriented programme and the thoughts captured during the working groups session

We're delighted to share that two powerful stories from our community have been published in Rare Revolution Magazine, in the special Rare Neuromuscular edition, giving voice to the lived experience of neuroacanthocytosis syndromes and helping to raise awareness far beyond our usual circles. 

The articles offer an intimate look at what it means to navigate life with a rare disease, the challenges, the costs, the resilience, and the determination to keep moving forward. 

Alex and Ginger Irvine feature in "From The Ground Up" which explores the journey from first symptoms through diagnosis and beyond, capturing the complexity of building a life while managing a progressive condition. Read full article: https://bit.ly/From-The-Ground-Up

Douglas and Erin Berndsen feature in "At What Cost" which examines the profound impact, emotional, financial, and social, that rare disease has on individuals and families. Read full article: https://bit.ly/Doug-At-What-Cost. 

Both pieces remind us that behind every medical term and research finding are real people with real stories, and that sharing these experiences is a powerful form of advocacy. When our stories appear in publications like Rare Revolution, they reach new audiences, challenge assumptions, and help others feel less alone. 

We encourage anyone in our community who feels inspired to share their experience to consider telling their story. Whether through writing, art, or other creative forms, your voice matters and can make a difference. 

We were thrilled to get 58 visitors to our open day with Scotland's Gardens Scheme, in aid of NA Advocacy, and visitors included a friend of the Advocacy, Dr Gordon Stewart, and his wife Alison. 

We had Alex's book on sale, plus lots of greeting cards with photographs of the garden's flowers.

This 2025 opening follows previous fundraisers that we ran almost 10 years ago for the  Advocacy and we're delighted to be able to support the organisation's work again. 

We're opening next on Friday/Saturday, 24/25 April 2026, 1pm - 5pm, admission £5.00. 

Come along, garden lovers, if you're near East Lothian! 

We're Mercat Cottage Garden, 1 The Cross, Pencaitland, East Lothian EH34 5DA. 

And there's more exciting news, BBC Gardeners' World Magazine just shortlisted it for Garden of the Year 2025! 

Will you vote for my garden? There are six gardens up for the People's Choice award, and only us in Scotland. The garden is listed as Sheila Averbuch, Edinburgh. 

How to vote: 

https://www.gardenersworld.com/news/gardens-of-the-year-competition-2025-peoples-choice-vote/

You may be asked to log in or you may just be able to scroll down the page. Tap on our garden and then tap 'choose'. 

Please share with garden-loving friends - voting closes 18 December! 

Note from editors: You can only vote once, so please support Sheila in winning the People's Choice award, it would be the perfect thank you for her tireless fundraising efforts for us!  

In July, over 60 researchers, clinicians, and advocates gathered online for the 22nd VPS13 Forum, moderated by Dr Kevin Peikert. This session took a deep dive into the bench side of research, exploring novel functions and structures of VPS13 and XK proteins through four cutting-edge scientific presentations.

The talks ranged from Professor’s Karin Reinisch's near-atomic structural insights into how VPS13A and XK work together as a bridge to move lipids between cell membranes, to Dr Paula Sanchez's work on how missing VPS13 proteins trigger cellular stress responses. Dr Goutam Kumar Tanti revealed for the first time that XK is enriched in oligodendrocytes (the brain cells responsible for myelin) opening new avenues for understanding neurological symptoms. Professor Angelika Harbauer connected the dots between mitochondrial damage and lysosomal dysfunction in Parkinson's disease, showing how VPS13C maintains vital cellular contact sites. 

Read / download the full lay report: https://naadvocacy.org/wp-content/uploads/2025/09/REPORT-22nd-VPS13-Forum-28Jul2025.pdf

These presentations paint a picture of a field evolving rapidly, with researchers not just asking "what goes wrong?" but "how can we fix it?" 

The most recent VPS13 Forum took place on 24 November 2025 and it covered everything about the 12th Symposium in Lausanne, bringing the latest findings and patient-oriented insights to the broader community. We look forward to the scientific publication which resulted after the meeting! 

The next VPS13 Forums are already scheduled through October 2026, ensuring consistent opportunities for knowledge exchange and collaboration. Keep an eye on your email and our social media channels for exact times and topics as we get closer to each date. 

Nathan is in a Masters of Data Science program through Northwestern University. On October 3rd, he presented at their annual data science symposium in Chicago. The project uses machine learning to classify the type of heartbeat based on electrocardiogram (ECG) data. Nathan proposes integrating ECG testing with machine learning heartbeat classification into the pre-season physical exams for all athletes. This approach can help trainers and physicians identify abnormal cardiac patterns, leading to timely referrals and earlier intervention.

The model accurately classifies normal beat and premature ventricular contractions (PVCs). The hope is that the work helps create a clear path for those in similar situations, helping patients reach the correct diagnosis and treatments more easily. Given his background as a collegiate runner, Nathan recognizes the importance of heart screening and accurate interpretations of results for athletes. Nathan looks forward to continuing to improve the model and work with his sports cardiologist in Charlotte, NC. 

Nathan's work reminds us that innovation often comes from those who understand the stakes most deeply, and his research may one day help countless athletes receive the early diagnosis and care they need.

The art book continues to raise awareness – and funds! – for NA Advocacy.

Alex sold more than 100 copies online plus almost 70 more offline, at different events, where people’s philanthropy ranged from the asking selling price to some very generous extra. 

So *drum roll* from last Christmas until now, the net donations raised by Alex just hit £1,000! 

And since we mentioned Christmas, Alex (and we are) is grateful to the Charity Excellence UK Gifts for Christmas platform, a curated collection of meaningful gifts that support UK charities during the festive season. They’re featuring her book prominently giving her great exposure and a much appreciated boost.

From cat-lover gifts to classroom favourites, the book has found its way into many hands and hearts. We’re still receiving warm feedback and creative ideas, including requests for a limerick reading competition, which we’re hoping to host sometime soon! 

If you don’t know what the book is about, check out it’s promo video on our YouTube channel. And as always, you can order the book worldwide via Lulu! 

Scroll through the gallery to see some more reactions from those who bought the book. 

Thank you, Alex, for your tenacity, humour, and generosity. Your creativity continues to inspire us!

As part of NA-USA’s participation in the RARE-X* collection of data we fall under the Global Gene** umbrella. Global Gene offers Zoom seminars, and the last seminar of the year was on October 16, 2025.

It was titled "RARE Advocacy Exchange: Knowing the Rights for Your RARE Child (and Yourself!)" and can be watched here: https://globalgenes.org/blog/rare-advocacy-exchange-session-8-knowing-your-rare-rights/

Four insurance takeaways from this seminar I found helpful as a family member of XK patients are:

Insurance

If you are denied coverage and you need to make an appeal. 

• Read your insurance policy thoroughly. Be ready to point out specific pages and paragraphs that contradict the denial. Document all calls and requests a care/case manager.
• Read your “physician’s “notes from each patient visit, not just the visit “summary” notes.
• Check the credentials of the physician who is denying your insurance claim. A specialist with expertise and familiarity with your rare disease and symptoms is a must for reviewing your appeal. If the person reviewing your claim is not a relevant specialist, you have grounds to appeal and request the relevant specialist review your claim.
• If you are injured at an airport, always have the airport call for an ambulance if needed. Do not call for an ambulance personally because your insurance company will most probably not cover the expense.

Travel 

When traveling let both the airline and Transportation Security Administration (TSA) know you are coming. They have separate disability accommodation protocols. 

While these insights were US-focused, the principles of thorough documentation, understanding your rights, and advocating effectively apply across healthcare systems worldwide, so this is knowledge that can empower any family navigating rare disease care. 

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*RARE-X works with patient advocacy groups and research institutions worldwide to collect and share high-quality rare disease patient data.

**Global Gene is a global non-profit advocacy group dedicated to supporting individuals and families affected by rare and genetic diseases.

This autumn marks the end of Neil Price’s tenure as Trustee of Advocacy for Neuroacanthocytosis Patients, a role he held over three full mandates over the last decade. 

Neil’s thoughtful, collaborative work, in particular his oversight of the Rathbone special account for the Glenn Irvine Prize, has been invaluable. His financial expertise and steady counsel supported our charity through a transformative period marked by growth, resilience, and a deepening of our mission to support patients and families affected by NA. 

We are deeply grateful for the time, care, and knowledge Neil brought to our charity. His legacy is woven into the milestones we’ve reached and the lives we continue to touch. 

As Neil steps down, the Board is now seeking to appoint new Trustees to help guide our future work. We are particularly interested in individuals who can contribute professional skills and experience to strengthen our fundraising and strategic development. Expressions of interest are warmly welcomed, and further details will be shared in due course. 

Thank you, Neil, for your service, your wisdom, and your friendship.